Frontotemporal dementia genetics

Journal of Geriatric Psychiatry and Neurology

Volumn 11, Issue 2, 1998, Pages 55-60

  Wilhelmsen, Kirk C ^a  

^a UNIVERSITY OF CALIFORNIA SAN FRANCISCO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOPROTEIN; TAU PROTEIN;

CHROMOSOME 17Q; FAMILIAL DISEASE; FRONTAL LOBE; FRONTOTEMPORAL DEMENTIA; GENE LINKAGE GROUP; GENE MUTATION; GENETIC SUSCEPTIBILITY; HUMAN; NERVE DEGENERATION; PRIORITY JOURNAL; PROTEIN AGGREGATION; REVIEW;

EID: 0032420270     PISSN: 08919887     EISSN: None     Source Type: Journal    
DOI: 10.1177/089198879801100203     Document Type: Review

References (65)

1. Kosunen O, Soininen H, Paljarvi L, et al. Diagnostic accuracy of Alzheimer's disease: a neuropathological study. Acta JVeuropathol 1996; 91:185-193.
2. Cummings JL. Chapter 6: behavioral disorders associated with frontal lobe injury. In: Cummings JL, ed. Clinical neuropsychiatry. Orlando, FL: Grune & Stratton, 1985:57-67.
3. Kertesz A, Kalvach P. Arnold Pick and German neuropsychiatry in Prague. Arch Neurol 1996; 53:935-938.
4. Constantinidis J, Richard J, Tissot R. Pick's disease. Histological and clinical correlations. Eur Neurol 1974; 11:208-217.
5. Hulette CM, Grain BJ. Lobar atrophy \vithout Pick bodies. Clin Neuropathol 1992; 11:151-156.
6. Kertesz A. Frontotemporal dementia, Pick disease, and corticobasal degeneration: one entity or 3? I. Arch Neurol 1997; 54:1427-1429.
7. Neary D. Frontotemporal degeneration, Pick disease, and corticobasal degeneration: one entity or 3? 3. Arch Neurol 1997; 54:1425-1427.
8. Jackson M, Lowe J. The new neuropathology of degenerative frontotemporal dementias. Acta Neuropathol 1996; 91:127-134.
9. Knopman DS, Mastri AR, Frey WH, et al. Dementia lacking distinctive histologie features: a common non-Alzheimer degenerative dementia. Neurology 1990; 40:251-256.
10. Giannakopoulos P, Hof PR, Bouras C. Dementia lacking distinctive histopathology: clinicopathological evaluation of 32 cases. Acta Neuropathol 1995; 89:346-355.
11. Snowden JS, Neary D, Mann DMA. Fronto-temporal lobar degeneration: Fronto-temporal dementia, progressive aphasia, semantic dementia. New York: Churchill Livingstone, 1996.
12. Wilhelmsen KC, Lynch T, Nygaard TG. Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q2122. Am J Hum Genet 1994; 55:1159-1165.
13. Lynch TS, Sano M, Marder KS, et al. Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy-complex (DDPAC). Neurology 1994; 44:1878-1884.
14. Brun A. Frontal lobe degeneration of non-Alzheimer type. I. Neuropathology. Arch Gerontol Geriatr 1987; 6:193-208.
15. Neary D, Snowden JS, Northen B, et al. Dementia of frontal lobe type. J Neurol Neurosurg Psychiatry 1988; 51:353-361.
16. Neary D, Snowden JS, Mann DM. Familial progressive aphasia: its relationship to other forms of lobar atrophy. J Neurol Neurosurg Psychiatry 1993; 56:1122-1125.
17. Barber R, Snowden JS, Crawford D. Frontotemporal dementia and Alzheimer's disease: retrospective differentiation using information from informants. J Neurol Neurosurg Psychiatry 1995; 59:61-70.
18. Miller BL, Chang L, Mena I, et al. Progressive right frontotemporal degeneration: clinical, neuropsychological and SPECT characteristics. Dementia 1993; 4:204-213.
19. Jagust WJ, Reed BR, Scab JP, et al. Clinical-physiologic correlates of Alzheimer's disease and frontal lobe dementia. Am JPhysiol Imag 1989; 4:89-96.
20. Miller BL, Ikonte C, Ponton M, et al. A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations. Neurology 1997; 48:937-942.
21. Risberg J, Passant U, Warkentin S, et al. Regional cerebral blood flow in frontal lobe dementia of non-Alzheimer type. Dementia 1993; 4:186-187.
22. Gustafson L. Frontal lobe degeneration of non-Alzheimer type. II. Clinical picture and differential diagnosis. Arch Gerontol Geriatr 1987; 6:209-223.
23. Stevens M, van Duijn CM, Kamphorst W, et al. Familial aggregation in frontotemporal dementia. Neurology 1998; 50:1541-1545.
24. Gearing M, Mirra SS, Hedreen JC, et al. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part X. Neuropathology confirmation of the clinical diagnosis of Alzheimer's disease. Neurology 1995; 45:461-466.
25. Kosunen O, Soininen H, Paljarvi L, et al. Diagnostic accuracy of Alzheimer's disease: a neuropathological study. Acta Neuropathol 1996; 91:185-193.
26. Froelich S, Basun H, Forsell C, et al. Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17ql2-21. Am J Med Genet 1997; 74:380-385.
27. London CL, Lynch T, Norton J, et al. Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. Neurology 1998; 50:1546-1555.
28. Heutink P, Stevens M, Rizzu P, et al. Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann Neuroi 1997; 41:150-159.
29. Petersen RB, Tabaton M, Chen SG, et al. Familial progressive subcortical gliosis: presence of prions and linkage to chromosome il. Neurology 1995; 45:1062-1067.
30. Murreil JR, Koller D, Foroud T, et al. Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17. Am JHum Genet 1997; 61:1131-1138.
31. Baker M, Kwok JB, Kucera S, et al. Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. Ann Neurol 1997; 42:794-798.
32. Yamaoka LH, Welsh-Bohmer KA, Hulette CM, et al. Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. Am J Hum Genet 1996; 59:1306-1312.
33. Wijker M, Wszolek ZK, Wolters ECH, et al. Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 1996; 5:151-154.
34. Wszolek ZK, Pfeiffer RF, Bhatt MH, et al. Rapidly progressive autosomal dominant parkinsonism and dementia with pallidoponto-nigral degeneration. Ann Neurol 1992; 32:312-320.
35. Lanska D J, Currier RD, Cohen M, et al. Familial progressive subcortical gliosis. Neurology 1994; 44:1633-1643.
36. Spillantini MG, Goedert M, Crowther RA, et al. Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. Proc Natl Acad Sci USA 1997; 94:4113-4118.
37. Sumi SM, Bird TD, Nochlin D, et al. Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala. Neurology 1992; 42:120-127.
38. Foster NL, Wilhelmsen KG, Sima AAF, et al. Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus statement Ann Neurol 1997; 41:706-715.
39. Sima AAF, Defendini R, Keohane C, et al. The neuropathology of chromosome 17-linked dementia. Ann Neurol 1996; 39:734-743.
40. Spillantini MG, Goedert M, Crowther RA, et al. Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. Proc Natl Acad Sci USA 1997; 94:4113-4118.
41. Wilhelmsen KG. Frontotemporal dementia is on the MAPtau. Ann Neurol 1997; 41:139-140.
42. Conrad C, Andreadis A, Trojanowski JQ, et al. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 1997; 41:277-281.
43. Poorkaj P, Bird T, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998; 43:815-825.
44. Spillantini MG, Murrell JR, Goedert M, et al. Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci USA 1998; 95:7737-7741.
45. Hutton M, London CL, Rizzu P, et al. Association of missense j and 5'-splice-site mutations in tau with the inherited demen tia FTDP-17. Nature 1998; 393:702-705.
46. Clark LN, Poorkaj P, Wszolek ZK, et al. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related chromosome 17-liked neurodegenerative dis- ; orders. ProcNatlAcadSci USA 1998; 95:13103-13107.
47. Kosik KS. Tau protein and neurodegeneration. Mol Neurobiol > 1992; 4:171-179.
48. Goedert M, Spillantini MG, Jakes R, et al. Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. , Neuron 1989; 3:519-526. I
49. Andreadis A, Brown WM, Kosik KS. Structure and novel exons of the human tau gene. Biochemistry 1992; j 31:10626-10633.
50. Hutton M, Lendon CL, Rizzu P, et al. Association of missense and S'-splice-site mutations in tau with the inherited demen- ( tia FTDP-17. Nature 1998; 393:702-705.
51. Andreadis A, Brown WM, Kosik KS. Structure and novel exons of the human tau gene. Biochemistry 1992; 31:10626-10633.
52. Goedert M, Spillantini MG, Jakes R, et al. Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease. , Neuron 1989; 3:519-526.
53. Poorkaj P, Bird T, Wijsman E, et al. Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol 1998; 43:815-825.
54. Schellenberg GD, Pericak-Vance MA, Wijsman EM, et al. Linkage analysis of familial Alzheimer disease, using chro- i mosome 21 markers. Am J Hum Genet 1991; 48:563-583.
55. Conrad C, Andreadis A, Trojanowski JQ, et al. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol 1997; 41:277-281.
56. Brown J, Gydesen S, Sorensen SA, et al. Genetic characterization of a familial non-specific dementia originating in Jutland, Denmark. J Neurol Sci 1993; 114:138-143.
57. Brown J, Ashworth A, Gydesen S, et al. Familial non-specific dementia maps to chromosome 3. Hum Mol Genet 1995; 4:1625-1628.
58. ChartierHarlin MC, Crawford F, Houlden H, et al. Early-onset ( Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. Nature 1991; 353:844-846.
59. GoateAM, Chartier Harlin MC, MullanM, et al. Segregation | of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991; 349:704-706.
60. Le WD, Xie WJ, Kong R, et al. Beta-amyloid-induced neuro- : toxicity of a hybrid septal cell line associated with increased tau phosphorylation and expression of beta-amyloid precursor protein. J Neurochem 1997; 69:978-985.
61. Shea TB, Prabhakar S, Ekinci FJ. Beta-amyloid and ionophore A23187 evoke tau hyperphosphorylation by distinct intracellular pathways: differential involvement of the calpain/protein kinase C system. JNeurosci Res 1997; 49:759-768.
62. Barger SW, Harmon AD. Microglial activation by Alzheimer amyloid precursor protein and modulation by apolipoprotein E. Nature 1997; 388:878-881.
63. Minthon L, Hesse C, Sjeogren M, et al. The apolipoprotein E ] epsilon-4 allele frequency is normal in fronto-temporal dementia, but correlates with age at onset of disease. Neurosci Lett 1997; 226:65-67.
64. Stevens M, van Duijn CM, de KnijffP, et al. Apolipoprotein E gene and sporadic frontal lobe dementia. Neurology 1997; 48:1526-1529.
65. Stevens M, van Duijn CM, Kamphorst W, et al. Familial aggregation in frontotemporal dementia. Neurology 1998; 50:1541-1545.